Publications:

Enhanced MCP-1 Release in Early Autosomal Dominant Polycystic Kidney Disease.

Kidney International Reports

Janssens, Peter P; Decuypere, Jean-Paul JP; De Rechter, Stéphanie S; Breysem, Luc L; Van Giel, Dorien D; Billen, Jaak J; Hindryckx, An A; De Catte, Luc L; Baldewijns, Marcella M; Claes, Kathleen B M KBM; Wissing, Karl M KM; Devriendt, Koen K; Bammens, Bert B; Meyts, Isabelle I; Torres, Vicente E VE; Vennekens, Rudi R; Mekahli, Djalila D

Publication Date: 2021-06

Variant appearance in text: PKD1: 6574_6580del; Thr2192Alafs*18

PubMed Link: 34169210

Variant Present in the following documents:

• mmc1.pdf

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Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

Plos One

Liu, Yanqiu Y; Wei, Xiaoming X; Kong, Xiangdong X; Guo, Xueqin X; Sun, Yan Y; Man, Jianfen J; Du, Lique L; Zhu, Hui H; Qu, Zelan Z; Tian, Ping P; Mao, Bing B; Yang, Yun Y

Publication Date: 2015

Variant appearance in text: PKD1: 6574_6580delACCGCCA; T2192Afs*18

PubMed Link: 26274329

Variant Present in the following documents:

• Main text
• pone.0133636.pdf

View BVdb publication page